Misdiagnosing autism

A reassessment of autism in children with 22q

Kathleen Angkustsiri and Tony Simon with 22Q patient.

UC Davis MIND Institute researcher Tony Simon and his colleague, Kathleen Angkustsiri, see children with a genetic disorder called 22q11.2 deletion syndrome. Many of these patients also have a second diagnosis: autism.

But to Simon and Angkustsiri that seemed wrong-headed

“Over the years, a number of children came to us as part of the research or the clinical assessments that we perform, and their parents told us that they had an autism spectrum diagnosis. It's quite clear that children with the disorder do have social impairments,” said Simon, professor of psychiatry and behavioral sciences and director of the chromosome 22q11.2 deletion program at the MIND Institute.

“But it did seem to us that they did not have a classic case of autism spectrum disorder. They often have very high levels of social motivation. They get a lot of pleasure from social interaction, and they’re quite socially skilled.”

22q11.2 deletion syndrome — or 22q — may cause mild to severe cardiac anomalies, weakened immune systems and malformations of the head and neck and the roof of the mouth, or palate. Children with the condition also experience developmental delay, with IQs in the borderline-to-low-average range. They characteristically have significant anxiety and appear socially awkward.

A groundbreaking study

Video: Tony Simon talks about 22q

Based on parent-report measures, about 50 percent of children with 22q are thought to have autism. Simon and Angkustsiri decided to study the incidence in children they see at the MIND Institute with 22q and autism. They administered two tests — Autism Diagnostic Observation Schedule (ADOS), a gold-standard autism assessment for autism to 29 children with 22q. The Social Communication Questionnaire (SCQ), a 40-question parent screening tool for communication and social functioning based was administered to their parents. Their study, published in September 2013 Journal of Autism and Developmental Disorders, found that none of them“met strict diagnostic criteria” for autism.

“Our findings lead us to question whether this is the correct label for these children, who clearly have social impairments. We need to find out what interventions are most appropriate for their difficulties,” said Kathleen Angkustsiri, lead author and assistant professor of developmental-behavioral pediatrics at the MIND Institute.

Far-reaching implications

Simon and Angkustsiri said the children’s social deficits might be more a function of their developmental delay and intellectual disability than autism.

“If you put them with their younger siblings’ friends they function very well in a social setting,” Simon said, “and they interact well with an adult who accommodates their expectations for social interaction.”

Video: Kathleen Angkustsiri talks about 22q

The study has far-reaching implications for children with 22q, because some autism treatments, including widely used discrete-trial training approaches to teaching skills in structured steps, may exacerbate the anxiety that is commonplace among the population.

Angkustsiri said that further study is needed to assess more appropriate treatments for children with 22q, such as improving their communication skills, treating their anxiety, and helping them to remain focused and on task.

“There are a variety of different avenues that might be pursued rather than treatments that are designed to treat children with autism,” Angkustsiri said. “There are readily available, evidence-based treatments that may be more appropriate to help maximize these children’s potential.”